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342 Laboratory Medicine in Psychiatry and Behavioral Science
Anorexia nervosa (AN) (continued)
Laboratory testing
(continued)
• LFTs: elevated AST, ALT, lactate dehydrogenase, ALP
• Thiamine: low, although testing may not capture deficiency
For patients underweight >6 months:
• DEXA scan for osteoporosis/osteopenia
• Estradiol level in females, testosterone level in males
Nonroutine assessments:
• Serum amylase level: elevation indicates persistent or recurrent
vomiting
• Thyroid function tests: high TSH, low thyroxine consistent with
hypothyroidism
• Lipids: increased low-density lipoprotein cholesterol and total cho-
lesterol arising from loss of body fat (increased lipolysis)
• LH and FSH levels for persistent amenorrhea at normal weight
• Brain MRI or CT to detect brain atrophy
• Fecal occult blood testing
American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 5th Edition,
Text Revision. Washington, DC, American Psychiatric Association, 2022
Dobrescu SR, Dinkler L, Gillberg C, et al: Anorexia nervosa: 30-year outcome.Br J Psychiatr 216(2):97–
104, 2020
Eddy KT, Tabri N, Thomas JJ, et al: Recovery from anorexia nervosa and bulimia nervosa at 22-year
follow-up.J Clin Psychiatry 78(2):184–189, 2017
Gibson D, Workman C, Mehler PS: Medical complications of anorexia nervosa and bulimia nervosa.Psy-
chiatr Clin North Am 42(2):263–274, 2019
Harrington BC, Jimerson M, Haxton C, Jimerson DC: Initial evaluation, diagnosis, and treatment of an-
orexia nervosa and bulimia nervosa.Am Fam Physician 91(1):46–52, 2015
Mitchell JE, Peterson C: Anorexia nervosa. N Engl J Med 382(14):1343–1351, 2020
Rosen E, Bakshi N, Watters A, et al: Hepatic complications of anorexia nervosa.Dig Dis Sci 62(11):2977–
2981, 2017
Sachs KV, Harnke B, Mehler PS, Krantz MJ: Cardiovascular complications of anorexia nervosa: a system-
atic review.Int J Eat Disord 49(3):238–248, 2016
Treasure J, Zipfel S, Micali N, et al: Anorexia nervosa. Nat Rev Dis Primers 1:15074, 2015
Volpe U, Tortorella A, Manchia M, et al: Eating disorders: what age at onset? Psychiatry Res 238:225–227,
2016
Weinbrenner T, Züger M, Jacoby GE, et al: Lipoprotein metabolism in patients with anorexia nervosa: a
case-control study investigating the mechanisms leading to hypercholesterolaemia.Br J Nutr
91(6):959–969, 2004
Westmoreland P, Krantz MJ, Mehler PS: Medical complications of anorexia nervosa and bulimia.Am J
Med 129(1):30–37, 2016
Zipfel S, Giel KE, Bulik CM, et al: Anorexia nervosa: aetiology, assessment, and treatment.Lancet Psychi-
atry 2(12):1099–1111, 2015
https://t.me/med1917
343 Diseases and Conditions
Antiphospholipid syndrome (APS)
Clinical findings APS is a systemic autoimmune disease characterized by thrombotic or
obstetrical events that occur in patients with persistent antiphospho
-
lipid (aPL) antibodies. The syndrome is often found in association with
other autoimmune diseases such as SLE but also can be seen in the ab
-
sence of other autoimmune symptoms. The diagnosis of APS is made
when both clinical manifestations and laboratory abnormalities (posi
-
tive
aPL tests) are present.
Neurological presentations of APS are well recognized. These include
stroke/TIA, cognitive dysfunction, subcortical white matter changes,
dementia, delirium, seizures, headaches, chorea, transverse myelitis,
Guillain-Barré syndrome, a “multiple sclerosis-like” syndrome, and
motor neuropathy. Stroke occurring in a young adult should raise sus
-
picion for APS. TIA can manifest as amaurosis fugax, vertigo, transient
global amnesia, transient paresthesias, or weakness. Subcortical white
matter lesions may be seen on MRI in the absence of symptoms. Head
-
aches are often recurrent and refractory to usual treatment but may re-
spond well to anticoagulation. In general, psychiatric presentations are
not well recognized, but psychosis, mania, treatment-resistant bipolar
disorder, and depression have been
reported. APS-associated psychosis
is characterized by acute onset, female sex,
older age at onset, and co-
morbid medical conditions.
Obstetrical presentations of APS include fetal loss after the tenth week
of gestation, recurrent early miscarriages, intrauterine growth restric
-
tion, and preeclampsia. Other clinical presentations of APS include
deep venous thrombosis, pulmonary embolism, thrombocytopenia,
hemolytic anemia, MI, cardiac valve vegetations/thickening, ne
-
phropathy, superficial thrombophlebitis, livedo reticularis/racemosa,
and livedoid vasculopathy with cutaneous ulceration.
Laboratory testing aPL antibodies include lupus anticoagulant, anticardiolipin, and anti-
β-2 glycoprotein 1. Of the three tests, lupus anticoagulant has the stron-
gest correlation with clinical events, but all three tests are performed to
facilitate risk stratification. Persistence of antibodies is determined by
testing on two or more occasions ≥12 weeks apart. If a patient with
autoimmune symptoms does not test positive, the test is repeated be
-
cause antibodies can develop a
t any time. In addition, false-positive
results can be seen with current infections, prior syphilis infection, or
the use of anticoagulants.
Laboratory criteria indicating a positive aPL antibody test include any
one or a combination of the following:
• Lupus anticoagulant present in plasma on two or more occasions
≥12 weeks apart
• Anticardiolipin antibody of IgG and/or IgM isotype in serum or
plasma, present in medium to high titer (>40 GPL or MPL, or
>99th percentile) on two or more occasions ≥12 weeks apart
•Anti-β-2 glycoprotein 1 antibody of IgG and/or IgM isotype in se-
rum or plasma (in titer >99th percentile) on two or more occasions
≥12 weeks apart
https://t.me/med1917
344 Laboratory Medicine in Psychiatry and Behavioral Science
Antiphospholipid syndrome (APS) (continued)
Laboratory testing
(continued)
In addition to APS, the differential diagnosis for a positive test in-
cludes SLE and other autoimmune disorders, HIV, certain cancers, and
advanced age. Infections and drugs such as phenothiazines and pro-
cainamide may cause a transient positive test. aPL antibodies have
been identified in patients with COVID-19 infection, but it is not
known whether they are involved in thrombotic events. At present,
aPL antibodies have no role in COVID-19 diagnosis or management.
Available data suggest that mRNA vaccines for COVID-19 appear to
be well tolerated in patients with aPL antibodies or APS.
Thrombocytopenia is also present in 20% of APS cases, usually mild
(>100,000 platelets/μL).
INR is monitored in patients treated for APS with anticoagulants,
although there is some controversy as to target INR level.
Aneja J, Kuppili PP, Paul K, et al: Antiphospholipid syndrome presenting as treatment resistant bipolar
disorder and thrombocytopenia in a young male.J Neuroimmunol 343:577238, 2020
Avari JN, Young RC: A patient with bipolar disorder and antiphospholipid syndrome.J Geriatr Psychia-
try Neurol 25(1):26–28, 2012
Devreese K, Hoylaerts MF: Challenges in the diagnosis of the antiphospholipid syndrome. Clin Chem
56:930–940, 2010
Erkan D, Lockshin MD: Non-criteria manifestations of antiphospholipid syndrome. Lupus 19:424–427,
2010
Garcia D, Erkan D: Diagnosis and management of the antiphospholipid syndrome.N Engl J Med
378(21):2010–2021, 2018
Gris JC, Nobile B, Bouvier S: Neuropsychiatric presentations of antiphospholipid antibodies.Thromb Res
135(suppl 1):S56–S59, 2015
Hallab A, Naveed S, Altibi A, et al: Association of psychosis with antiphospholipid antibody syndrome:
a systematic review of clinical studies.Gen Hosp Psychiatry 50:137–147, 2018
Muscal E, Brey RL: Antiphospholipid syndrome and the brain in pediatric and adult patients. Lupus
19:406–411, 2010
Petri M: Antiphospholipid syndrome.Transl Res 225:70–81, 2020
Sammaritano LR: Antiphospholipid syndrome.Best Pract Res Clin Rheumatol 34(1):101463, 2020
Sayar Z, Moll R, Isenberg D, Cohen H: Thrombotic antiphospholipid syndrome: a practical guide to di-
agnosis and management. Thromb Res 198:213–221, 2021
Yelnik CM, Kozora E, Appenzeller S: Cognitive disorders and antiphospholipid antibodies.Autoimmun
Rev 15(12):1193–1198, 2016
Yelnik CM, Kozora E, Appenzeller S: Non-stroke central neurologic manifestations in antiphospholipid
syndrome.Curr Rheumatol Rep 18(2):11, 2016
https://t.me/med1917
345 Diseases and Conditions
Anxiety disorder due to another medical condition;
substance/medication-induced anxiety disorder
Clinical findings Secondary anxiety may be chronic and unremitting or episodic. Causes
of chronic anxiety include chronic obstructive pulmonary disease,
hyperthyroidism, hypocalcemia, congestive heart failure, TBI, de
-
mentia, and stroke (especially in the left frontal area). Drugs associated
with chronic anxiety include stimulants, yohimbine, and antidepres
-
sants in certain patients (especially if the dose is excessive). Withdrawal
from clonidine, anticholinergic drugs, alcohol, sedative-hypnotics, or
nicotine is also associated with this condition.
Causes of episodic anxiety include Parkinson’s disease (during “off”
periods), angina (especially in females), asthma, paroxysmal atrial
tachycardia, pheochromocytoma, hypoglycemia, substance abuse or
withdrawal, simple partial seizures, pulmonary emboli, and mastocy
-
tosis. Drugs associated with episodic anxiety include sympathomimet-
ics, caffeine, cocaine, amphetamines, marijuana, and hallucinogens.
Also associated is withdrawal from alcohol, which may occur at a par-
ticular time every day after the previous night’s drinking.
Laboratory testing Basic laboratory workup for anxiety includes only a metabolic panel
(BMP or CMP) to check calcium and glucose levels, and TSH. Depend
-
ing on patient characteristics and history, other elements of the evalua-
tion might include one or more of the following:
• ECG, Holter monitoring, cardiac stress testing, and/or echocardio-
gram
• Chest X-ray, pulmonary function tests, and/or arterial blood gases
• GGT with or without CDT for suspicion of covert drinking
• Plasma free metanephrines
• Urine porphyrin precursors (aminolevulinic acid [ALA] and por-
phobilinogen [PBG])
• Pulmonary CT scan
• EEG
American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 5th Edition,
Text Revision. Washington, DC, American Psychiatric Association, 2022
https://t.me/med1917
346 Laboratory Medicine in Psychiatry and Behavioral Science
Attention-deficit/hyperactivity disorder in adults
Clinical findings
Laboratory testing
In adults, a formal DSM-5-TR diagnosis of ADHD requires the pres-
ence of five symptoms across the domains of attention and hyperactiv-
ity, with several symptoms present before age 12 years. Although most
adults fail to meet the full diagnostic criteria, up to 70% have persistent
symptoms or functional impairment. Only 25% of adults currently
diagnosed with ADHD received the diagnosis in childhood. Although
the disorder is more common in young males than in young females,
in adults the ratio is closer to 1:1.
With aging, the motor unrest seen in children and adolescents declines,
whereas problems with sustained attention, executive function, and
impulsivity persist. Prominent symptoms in adult patients include
emotional dysregulation, sleep/wake disturbances, and impulsivity,
with the latter underlying an increased incidence of motor vehicle
accidents, violent crimes, and risky sexual activity. The lifetime risk of
suicide is increased four- to fivefold. Comorbid mood, anxiety, and/or
substance abuse disorders are the rule and may obscure the ADHD
diagnosis.
Evaluation of adults with suspected ADHD relies mainly on the pa-
tient interview, using a checklist such as the Adult ADHD Self-Report
Scale and its accompanying instructions, which constitute a semistruc
-
tured interview. Ancillary reports from family and others familiar with
the patient are helpful but not always available. Increasingly, ADHD
is identified during neuropsychological testing in memory disorder
clinics when disproportionate impairment is found in attentional and
executive functions, and further history reveals several symptoms of
childhood onset.
Laboratory testing in the diagnosis of ADHD is limited to ruling out
underlying diseases that could account for symptoms, including drug
use, TBI, epilepsy, hydrocephalus, brain aneurysm or arteriovenous
malformation, stroke, HIV, thyroid disease, lead poisoning, visual or
hearing loss, or pediatric autoimmune neuropsychiatric disorders as-
sociated with streptococcal infections (PANDAS).
ADHD has a significant genetic component, with a heritability of 0.8,
but only a few genes have been associated with this condition, and at
present there are no accepted genetic biomarkers. Gene-environment
interactions may have inflated these heritability estimates. Half of
adults with ADHD exhibit executive function impairment on neuro
-
psychological testing, including deficits in sustained attention and set
shifting, working memory, planning ability, and inhibitory control.
Other abnormalities are seen in the regulation of arousal, reaction time
variability, and temporal processing. Structural brain abnormalities
seen in ADHD include reduced global brain volume and reduced vol-
ume in the prefrontal, cerebellar, and subcortical regions. Volume loss
is positively correlated with severity of ADHD symptoms. Corre-
spondingly, functional imaging has demonstrated reduced activation
in the prefrontal cortex, anterior cingulate gyrus, and associated pari
-
etal, striatal, and cerebellar areas. PET studies have shown dysfunction
in both the dopaminergic and noradrenergic pathways. Although
these findings are useful in understanding the pathophysiology of
ADHD, as of this writing they are not used in formal diagnosis.
https://t.me/med1917
347 Diseases and Conditions
Attention-deficit/hyperactivity disorder in adults (continued)
American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 5th Edition,
Text Revision. Washington, DC, American Psychiatric Association, 2022
Anbarasan D, Kitchin M, Adler LA: Screening for adult ADHD.Curr Psychiatry Rep 22(12):72, 2020
Banaschewski T, Becker K, Döpfner M, et al: Attention-deficit/hyperactivity disorder.Dtsch Arztebl Int
114(9):149–159, 2017
Colvin MK, Stern TA: Diagnosis, evaluation, and treatment of attention-deficit/hyperactivity disorder.
J Clin Psychiatry 76(9):e1148, 2015
Jain R, Jain S, Montano CB: Addressing diagnosis and treatment gaps in adults with attention-deficit/
hyperactivity disorder. Prim Care Companion CNS Disord 19(5):17nr02153, 2017
Magnin E, Maurs C: Attention-deficit/hyperactivity disorder during adulthood. Rev Neurol (Paris)
173(7–8):506–515, 2017
Matthews M, Nigg JT, Fair DA: Attention deficit hyperactivity disorder.Curr Top Behav Neurosci 16:235–
266, 2014
Posner J, Polanczyk GV, Sonuga-Barke E: Attention-deficit hyperactivity disorder. Lancet 395(10222):450–
462, 2020
Thapar A, Cooper M: Attention deficit hyperactivity disorder.Lancet 387(10024):1240–1250, 2016
Volkow ND, Swanson JM: Clinical practice: adult attention deficit-hyperactivity disorder.N Engl J Med
369(20):1935–1944, 2013
Young JL, Goodman DW: Adult Attention-deficit/hyperactivity disorder diagnosis, management, and
treatment in the DSM-5 era.Prim Care Companion CNS Disord 18(6):10.4088/PCC.16r02000, 2016
https://t.me/med1917
348 Laboratory Medicine in Psychiatry and Behavioral Science
Autism spectrum disorder (ASD)
Clinical findings
Laboratory testing
ASD is a neurodevelopmental disorder affecting ~1 in 68 children. The
disorder is characterized by persistent deficits in social communication
and interaction and by restricted, repetitive patterns of behavior, inter
-
ests, or activities. It is highly heterogeneous in presentation and course.
In a community sample, one-third of adults diagnosed with ASD as
children who had normal or higher intelligence no longer reported ASD
symptoms. Adults with ASD coupled with intellectual disability, on the
other hand, required daily support.
Specific ASD symptoms in adults include social anxiety; difficulty with
social interactions; problems making friends and maintaining friend
-
ships; difficulty discerning the emotions of others, including facial
expressions and body language; problems regulating emotions; hyper-
sensitivity to touch, sounds, or smells; monotonic speech; difficulty
with changes to routines; inflexible thinking; and a limited range of
interests. Some individuals demonstrate exceptional abilities in a par
-
ticular field of expertise.
Currently, diagnosis of ASD is clinical, based on childhood and adult
symptoms reported by the patient (and an informant, if possible).
Instruments such as the Autism Diagnostic Observation Schedule,
Second Edition (ADOS-2), and the Social Responsiveness Scale, Second
Edition (SRS-2), facilitate the process. If symptoms were not present in
childhood, another diagnosis is considered. In addition, other condi
-
tions that could give rise to symptoms should be excluded. Emerging
evidence suggests that eye-tracking data can be used to distinguish
adults with so-called high-functioning autism from healthy control
subjects.
Risk factors for the development of ASD are numerous and may in-
clude conception by in vitro fertilization, advanced paternal or mater-
nal age, prenatal exposure to air pollution and other teratogens,
gestational diabetes, smoking, alcohol consumption, infections (espe
-
cially rubella), preeclampsia, and maternal nutritional deficiencies
(folic acid, iron, fatty acids, vitamins), among others. Furthermore,
mounting evidence suggests that individuals with ASD have a reduced
ability to eliminate toxic metals such as aluminum and mercury and
that the accumulation of these elements contributes to ASD symptoms.
The most common comorbidities in ASD include anxiety, depression,
sleep disorders, learning disability, developmental coordination dis
-
order, intellectual disability, OCD, ADHD, epilepsy, GI disorders, im-
mune system disorders, and FXS. ASD traits are also highly prevalent
among eating disorder patients.
Laboratory testing cannot be used to diagnose ASD, but genetic testing
can in some cases identify its cause. ASD is known to be a multifactorial
genetic disease that does not conform to classical Mendelian inheri
-
tance. Most affected individuals have multiple interacting genes under-
lying the phenotype. The most frequently ordered test for individuals
presenting with clinical features of ASD is the chromosomal microarray
(CMA), which checks for extra or missing parts on chromosomes to
account for the development of ASD. CMA can identify a genetic cause
in 5%–14% of cases. Affected individuals should also be tested for FXS,
and affected females should be tested for Rett syndrome. If these tests
do not identify a cause for ASD, whole exome sequencing or whole
genome sequencing may be recommended.
https://t.me/med1917
349 Diseases and Conditions
Autism spectrum disorder (ASD) (continued)
Adamou M, Jones SL, Wetherhill S: Predicting diagnostic outcome in adult autism spectrum disorder us-
ing the Autism Diagnostic Observation Schedule, Second Edition. BMC Psychiatry 21(1):24, 2021
American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 5th Edition,
Text Revision. Washington, DC, American Psychiatric Association, 2022
Baj J, Flieger W, Flieger M, et al: Autism spectrum disorder: trace elements imbalances and the pathogen-
esis and severity of autistic symptoms. Neurosci Biobehav Rev 129:117–132, 2021
Bentz M, Westwood H, Jepsen JRM, et al: The autism diagnostic observation schedule: patterns in indi-
viduals with anorexia nervosa.Eur Eat Disord Rev 28(5):571–579, 2020
Fernandez BA, Scherer SW: Syndromic autism spectrum disorders: moving from a clinically defined to a
molecularly defined approach.Dialogues Clin Neurosci 19(4):353–371, 2017
Kreiman BL, Boles RG: State of the art of genetic testing for patients with autism: a practical guide for
clinicians. Semin Pediatr Neurol 34:100804, 2020
Lintas C, Persico AM: Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist.
J Med Genet 46:1–8, 2009
Lord C, Elsabbagh M, Baird G, Veenstra-Vanderweele J: Autism spectrum disorder.Lancet 392(10146):508–
520, 2018
Styles M, Alsharshani D, Samara M, et al: Risk factors, diagnosis, prognosis and treatment of au-
tism.Front Biosci (Landmark Ed) 25:1682–1717, 2020
Tammimies K, Marshall CR, Walker S, et al: Molecular diagnostic yield of chromosomal microarray anal-
ysis and whole-exome sequencing in children with autism spectrum disorder.JAMA 314(9):895–903,
2015
https://t.me/med1917
350 Laboratory Medicine in Psychiatry and Behavioral Science
Bipolar and related disorder due to another medical condition
Clinical findings This condition—also known as secondary mania (SM)—is character-
ized by a prominent and persistent period of abnormally elevated,
expansive, or irritable mood and abnormally increased activity or
energy. There is evidence from the history, physical examination, or
laboratory findings that the disturbance is the direct pathophysiologi
-
cal consequence of another medical condition. Usually, the onset of
mania is acute to subacute, in tandem with the presentation of the
medical condition. SM is more likely in patients with atypical features,
such as first episode after age 40 years, single episode, treatment resis-
tance, unusual symptoms (e.g., visual or olfactory hallucinations,
clouded consciousness, disorientation, marked memory impairment),
focal neurological signs, or soft neurological signs (e.g., astereognosis
or dysdiadochokinesia).
Known causes of SM include the following:
• Cushing’s disease
• Hypothyroidism or hyperthyroidism
• Vitamin B
12
deficiency
• Hemodialysis
• Multiple sclerosis
•SLE
•Stroke
•TBI
• Postpartum state
• Infection: influenza, encephalitis, neurosyphilis, HIV/AIDS
• Brain tumor
• Primary CNS lymphoma
• Epilepsy
• Neurodegenerative diseases: prion disease, FTD, Huntington’s
disease
• Post-neurosurgery state
• Calcification of the basal ganglia: idiopathic (Fahr’s disease) or sec-
ondary to hypoparathyroidism or other conditions
Brain lesions most often involve hypoactivity or disconnection of right
hemisphere structures or excitatory lesions such as epileptic foci in left
hemisphere structures.
Laboratory testing The cause of SM may be apparent, based on the history or physical
examination. If not, the following laboratory investigations should be
considered:
•CMP
• CBC with differential and platelets
•TSH
• Vitamin B
12
level
• Brain MRI or head CT
• EEG
• 24-hour urine free cortisol level with follow-up testing
• Urine toxicology
•HIV testing
https://t.me/med1917
351 Diseases and Conditions
Bipolar and related disorder due to another medical condition (continued)
Laboratory testing
(continued)
• Syphilis serology (RPR or VDRL)
• Antinuclear antibody with follow-up testing
American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 5th Edition,
Text Revision. Washington, DC, American Psychiatric Association, 2022
Bergink V, Rasgon N, Wisner KL: Postpartum psychosis: madness, mania, and melancholia in mother-
hood.Am J Psychiatry 173(12):1179–1188, 2016
Satzer D, Bond DJ: Mania secondary to focal brain lesions: implications for understanding the functional
neuroanatomy of bipolar disorder. Bipolar Disord 18(3):205–220, 2016
Torales J, González I, Barrios I, et al: Manic episodes due to medical illnesses: a literature review.J Nerv
Ment Dis 206(9):733–738, 2018
Wang C, Fipps DC: Primary CNS lymphoma and secondary causes of mania: a case report and literature
review. J Neuropsychiatry Clin Neurosci 34(1):84–88, 2022
https://t.me/med1917
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